Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19750 | 59473;59474;59475 | chr2:178592871;178592870;178592869 | chr2:179457598;179457597;179457596 |
| N2AB | 18109 | 54550;54551;54552 | chr2:178592871;178592870;178592869 | chr2:179457598;179457597;179457596 |
| N2A | 17182 | 51769;51770;51771 | chr2:178592871;178592870;178592869 | chr2:179457598;179457597;179457596 |
| N2B | 10685 | 32278;32279;32280 | chr2:178592871;178592870;178592869 | chr2:179457598;179457597;179457596 |
| Novex-1 | 10810 | 32653;32654;32655 | chr2:178592871;178592870;178592869 | chr2:179457598;179457597;179457596 |
| Novex-2 | 10877 | 32854;32855;32856 | chr2:178592871;178592870;178592869 | chr2:179457598;179457597;179457596 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs200732032  |
None | 1.0 | D | 0.865 | 0.542 | 0.809560938526 | gnomAD-4.0.0 | 6.84323E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99596E-07 | 0 | 0 |
| G/D | None | None | 0.898 | N | 0.597 | 0.372 | 0.433600339574 | gnomAD-4.0.0 | 1.20032E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-05 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.888 | 0.497 | 0.763842213962 | gnomAD-4.0.0 | 6.84323E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99596E-07 | 0 | 0 |
| G/S | rs200732032 |
-1.02 | 1.0 | N | 0.785 | 0.453 | None | gnomAD-2.1.1 | 1.10712E-04 | None | None | None | None | N | None | 0 | 1.41459E-04 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 1.95395E-04 | 0 |
| G/S | rs200732032 |
-1.02 | 1.0 | N | 0.785 | 0.453 | None | gnomAD-3.1.2 | 9.87E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.20647E-04 | 0 | 0 |
| G/S | rs200732032 |
-1.02 | 1.0 | N | 0.785 | 0.453 | None | gnomAD-4.0.0 | 2.75831E-04 | None | None | None | None | N | None | 1.33565E-05 | 8.3414E-05 | None | 0 | 0 | None | 1.56235E-05 | 0 | 3.59446E-04 | 2.19621E-05 | 1.92172E-04 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3508 | ambiguous | 0.3265 | benign | -0.489 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.482798585 | None | None | N |
| G/C | 0.3698 | ambiguous | 0.3559 | ambiguous | -0.917 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.535353831 | None | None | N |
| G/D | 0.27 | likely_benign | 0.2593 | benign | -0.768 | Destabilizing | 0.898 | D | 0.597 | neutral | N | 0.519660599 | None | None | N |
| G/E | 0.3357 | likely_benign | 0.3183 | benign | -0.901 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/F | 0.7648 | likely_pathogenic | 0.7484 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/H | 0.447 | ambiguous | 0.4391 | ambiguous | -0.777 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.7186 | likely_pathogenic | 0.679 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/K | 0.47 | ambiguous | 0.4359 | ambiguous | -1.085 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/L | 0.6754 | likely_pathogenic | 0.6438 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/M | 0.6962 | likely_pathogenic | 0.6613 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/N | 0.2519 | likely_benign | 0.2384 | benign | -0.719 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/P | 0.9735 | likely_pathogenic | 0.9683 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.3704 | ambiguous | 0.3596 | ambiguous | -0.99 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/R | 0.3582 | ambiguous | 0.3345 | benign | -0.606 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.522730078 | None | None | N |
| G/S | 0.1535 | likely_benign | 0.1442 | benign | -0.913 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.493634685 | None | None | N |
| G/T | 0.3899 | ambiguous | 0.367 | ambiguous | -0.973 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/V | 0.6292 | likely_pathogenic | 0.592 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.534846852 | None | None | N |
| G/W | 0.6371 | likely_pathogenic | 0.6345 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Y | 0.586 | likely_pathogenic | 0.575 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.